Canonical Allele Identifier: CA484776565

Gene: ERCC5 BIVM-ERCC5

Linked Data

• MyVariant Identifiers: chr13:g.103508436A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102856086A>C , CM000675.2:g.102856086A>C	GRCh38
NC_000013.10:g.103508436A>C , CM000675.1:g.103508436A>C	GRCh37
NC_000013.9:g.102306437A>C	NCBI36
NG_007146.1:g.15263A>C , LRG_464:g.15263A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.743A>C (ERCC5)
ENST00000682869.1:n.1151A>C (ERCC5)
ENST00000683246.1:n.1279A>C (ERCC5)
ENST00000684184.1:n.1148A>C (ERCC5)
ENST00000638434.1:c.600A>C (BIVM-ERCC5)
ENST00000639132.1:c.1177A>C (BIVM-ERCC5)	ENSP00000492684.1:p.Arg393=
ENST00000639435.1:c.1864A>C (BIVM-ERCC5)	ENSP00000491742.1:p.Arg622=
ENST00000651002.1:c.*263A>C (ERCC5)	ENSP00000498809.1:n.*263A>C
ENST00000651055.1:n.631A>C (ERCC5)
ENST00000651281.1:n.870A>C (ERCC5)
ENST00000651470.1:c.502A>C (ERCC5)	ENSP00000498701.1:p.Arg168=
ENST00000652225.2:c.502A>C (ERCC5) MANE Select	ENSP00000498881.2:p.Arg168=
ENST00000652613.1:c.-3A>C (ERCC5)	ENSP00000498357.1:n.-3A>C
ENST00000355739.8:c.502A>C (ERCC5)	ENSP00000347978.4:p.Arg168=
ENST00000535557.5:c.502A>C (ERCC5)	ENSP00000442117.1:p.Arg168=
ENST00000602836.1:c.1778A>C (BIVM-ERCC5)
ENST00000610537.4:c.502A>C (ERCC5)	ENSP00000478667.1:p.Arg168=
NM_000123.3:c.502A>C , LRG_464t1:c.502A>C (ERCC5)	NP_000114.2:p.Arg168=
NM_001204425.1:c.1864A>C (BIVM-ERCC5)	NP_001191354.1:p.Arg622=
NM_000123.4:c.502A>C (ERCC5) MANE Select	NP_000114.3:p.Arg168=
NM_001204425.2:c.1864A>C (BIVM-ERCC5)	NP_001191354.2:p.Arg622=